A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592667



Internal ID16033390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184375988..184380341hg38UCSC Ensembl
Innerchr3:184093776..184098129hg19UCSC Ensembl
Innerchr3:185576470..185580823hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg384354
hg194354
hg184354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv982574
Samples
Known GenesCHRD, THPO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592667
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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